Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

GALACTOSIDASE, ALPHA
Synonyms

FABRY DISEASE, CARDIAC VARIANT
ID

http://purl.bioontology.org/ontology/OMIM/300644
altLabel

FABRY DISEASE, CARDIAC VARIANT

GLA

ALPHA-GALACTOSIDASE A

GALA

FABRY DISEASE
cui

C0002986

C1970820

C1439334
Gene Locus

Xq22
Gene Symbol

GLA
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/300644.0062

http://purl.bioontology.org/ontology/OMIM/300644.0061

http://purl.bioontology.org/ontology/OMIM/300644.0063

http://purl.bioontology.org/ontology/OMIM/300644.0060

http://purl.bioontology.org/ontology/OMIM/300644.0050

http://purl.bioontology.org/ontology/OMIM/300644.0056

http://purl.bioontology.org/ontology/OMIM/300644.0052

http://purl.bioontology.org/ontology/OMIM/300644.0051

http://purl.bioontology.org/ontology/OMIM/300644.0055

http://purl.bioontology.org/ontology/OMIM/300644.0059

http://purl.bioontology.org/ontology/OMIM/300644.0054

http://purl.bioontology.org/ontology/OMIM/300644.0057

http://purl.bioontology.org/ontology/OMIM/300644.0058

http://purl.bioontology.org/ontology/OMIM/300644.0053

http://purl.bioontology.org/ontology/OMIM/300644.0040

http://purl.bioontology.org/ontology/OMIM/300644.0045

http://purl.bioontology.org/ontology/OMIM/300644.0048

http://purl.bioontology.org/ontology/OMIM/300644.0041

http://purl.bioontology.org/ontology/OMIM/300644.0043

http://purl.bioontology.org/ontology/OMIM/300644.0046

http://purl.bioontology.org/ontology/OMIM/300644.0044

http://purl.bioontology.org/ontology/OMIM/300644.0047

http://purl.bioontology.org/ontology/OMIM/300644.0049

http://purl.bioontology.org/ontology/OMIM/300644.0042

http://purl.bioontology.org/ontology/OMIM/300644.0033

http://purl.bioontology.org/ontology/OMIM/300644.0036

http://purl.bioontology.org/ontology/OMIM/300644.0035

http://purl.bioontology.org/ontology/OMIM/300644.0037

http://purl.bioontology.org/ontology/OMIM/300644.0039

http://purl.bioontology.org/ontology/OMIM/300644.0030

http://purl.bioontology.org/ontology/OMIM/300644.0031

http://purl.bioontology.org/ontology/OMIM/300644.0034

http://purl.bioontology.org/ontology/OMIM/300644.0032

http://purl.bioontology.org/ontology/OMIM/300644.0038

http://purl.bioontology.org/ontology/OMIM/300644.0022

http://purl.bioontology.org/ontology/OMIM/300644.0020

http://purl.bioontology.org/ontology/OMIM/300644.0027

http://purl.bioontology.org/ontology/OMIM/300644.0023

http://purl.bioontology.org/ontology/OMIM/300644.0025

http://purl.bioontology.org/ontology/OMIM/300644.0026

http://purl.bioontology.org/ontology/OMIM/300644.0024

http://purl.bioontology.org/ontology/OMIM/300644.0021

http://purl.bioontology.org/ontology/OMIM/300644.0029

http://purl.bioontology.org/ontology/OMIM/300644.0028

http://purl.bioontology.org/ontology/OMIM/300644.0010

http://purl.bioontology.org/ontology/OMIM/300644.0014

http://purl.bioontology.org/ontology/OMIM/300644.0017

http://purl.bioontology.org/ontology/OMIM/300644.0019

http://purl.bioontology.org/ontology/OMIM/300644.0013

http://purl.bioontology.org/ontology/OMIM/300644.0015

http://purl.bioontology.org/ontology/OMIM/300644.0012

http://purl.bioontology.org/ontology/OMIM/300644.0011

http://purl.bioontology.org/ontology/OMIM/300644.0018

http://purl.bioontology.org/ontology/OMIM/300644.0016

http://purl.bioontology.org/ontology/OMIM/300644.0002

http://purl.bioontology.org/ontology/OMIM/300644.0001

http://purl.bioontology.org/ontology/OMIM/300644.0007

http://purl.bioontology.org/ontology/OMIM/300644.0004

http://purl.bioontology.org/ontology/OMIM/300644.0005

http://purl.bioontology.org/ontology/OMIM/300644.0008

http://purl.bioontology.org/ontology/OMIM/300644.0003

http://purl.bioontology.org/ontology/OMIM/300644.0006

http://purl.bioontology.org/ontology/OMIM/300644.0009
MIMTYPEMEANING

Gene with known sequence
notation

300644
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

GALACTOSIDASE, ALPHA
tui

T047

T028
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10071118 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/C567062 MESH CUI
http://purl.bioontology.org/ontology/LNC/LP31872-2 LOINC CUI
http://purl.bioontology.org/ontology/MDRGER/10016016 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10002458 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10002458 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/16652001 SCTSPA CUI
http://purl.bioontology.org/ontology/LNC/LA14036-0 LOINC CUI
http://purl.bioontology.org/ontology/MEDDRA/10002458 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/X40VJ RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10016016 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/D6-74600 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10071118 MDRFRE CUI
http://purl.bioontology.org/ontology/LNC/MTHU036941 LOINC CUI
http://purl.bioontology.org/ontology/MESH/D000795 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/16652001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10071118 MEDDRA CUI
http://purl.bioontology.org/ontology/LNC/LP113911-4 LOINC CUI
http://purl.bioontology.org/ontology/CSP/1849-9034 CRISP CUI
http://purl.bioontology.org/ontology/MDRFRE/10016016 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/E75.21 ICD10CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/124464003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000411 NDFRT CUI
http://purl.bioontology.org/ontology/MSHFRE/D000795 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/124464003 SCTSPA CUI
http://www.limics.org/hrdo/rdfns#gen_id_16135 HRDO LOOM
http://www.orpha.net/ORDO/Orphanet_122153 ORDO LOOM